A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620845



Internal ID15820197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13495152..13524274hg38UCSC Ensembl
Outerchr6:13495384..13524506hg19UCSC Ensembl
Outerchr6:13603363..13632485hg18UCSC Ensembl
Outerchr6:13603363..13632485hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg383141
hg193141
hg183141
hg173141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509119
Supporting Variants
SamplesNA15510
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv620845
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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